Group items tagged

problem, players, pieces of the puzzle, putting it together interactive on the genome.

Human Genome Project fact sheet

Our genomes are riddled with the detritus of ancient viruses. They infected our hominid ancestors tens of millions of years ago, inserting their genes into the DNA of their hosts. Today, we carry about 100,000 genetic remnants of this invasion. So-called endogenous retroviruses make up 8 percent of the human genome.

An environmentally dependent method to excise particular genes and eliminate genetically modified organisms (GMOs) if they leave the lab, published this week (May 19) in Nature Communications, uses an inducible CRISPR/Cas9 genome-editing system to snip out vital pieces of the E. coli genome.

Learn to use Online Mendelian Inheritance in Man®, or OMIM®, a catalog of human genes and genetic conditions. OMIM is a foundational resource in genomics and is valuable for clinicians and biomedical researchers. OMIM links and data are found at sites all around the bioinformatics sphere, but understanding the full scope of OMIM's data and resources enable the most comprehensive understanding of human phenotypes and disease. OMIM contains full-text summaries of information from the scientific literature, and provides extensive links to the literature resources and other genomic resource tools as well. Use OMIM as a comprehensive first stop to find important information and gene links for human Mendelian disorders.

Ethical, Legal and Social Implications (ELSI) of Genetic Knowledge includes a short multimedia video introducing current and future societal issues associated with genetics and genomics. Short vignettes, containing a set of discussion questions, are provided to raise important ethical, legal or social issues.

Over the last decade, as DNA-sequencing technology has grown ever faster and cheaper, our understanding of the human genome has increased accordingly. Yet scientists have until recently remained largely ham-fisted when they've tried to directly modify genes in a living cell. Take sickle-cell anemia, for example. A debilitating and often deadly disease, it is caused by a mutation in just one of a patient's three billion DNA base pairs. Even though this genetic error is simple and well studied, researchers are helpless to correct it and halt its devastating effects.

The origin of viruses remains mysterious because of their diverse and patchy molecular and functional makeup. Although numerous hypotheses have attempted to explain viral origins, none is backed by substantive data. We take full advantage of the wealth of available protein structural and functional data to explore the evolution of the proteomic makeup of thousands of cells and viruses. Despite the extremely reduced nature of viral proteomes, we established an ancient origin of the "viral supergroup" and the existence of widespread episodes of horizontal transfer of genetic information. Viruses harboring different replicon types and infecting distantly related hosts shared many metabolic and informational protein structural domains of ancient origin that were also widespread in cellular proteomes. Phylogenomic analysis uncovered a universal tree of life and revealed that modern viruses reduced from multiple ancient cells that harbored segmented RNA genomes and coexisted with the ancestors of modern cells. The model for the origin and evolution of viruses and cells is backed by strong genomic and structural evidence and can be reconciled with existing models of viral evolution if one considers viruses to have originated from ancient cells and not from modern counterparts.

This animation depicts the CRISPR-Cas9 method for genome editing - a powerful new technology with many applications in biomedical research, including the potential to treat human genetic disease. Feng Zhang, a leader in the development of this technology, is a faculty member at MIT, an investigator at the McGovern Institute for Brain Research, and a core member of the Broad Institute. Further information can be found on Prof. Zhang's website at http://zlab.mit.edu .

Why does a snake have 25 or more rows of ribs, whereas a mouse has only 13? The answer, according to a new study, may lie in "junk DNA," large chunks of an animal's genome that were once thought to be useless. The findings could help explain how dramatic changes in body shape have occurred over evolutionary history. Scientists began discovering junk DNA sequences in the 1960s. These stretches of the genome-also known as noncoding DNA-contain the same genetic alphabet found in genes, but they don't code for the proteins that make us who we are. As a result, many researchers long believed this mysterious genetic material was simply DNA debris accumulated over the course of evolution. But over the past couple decades, geneticists have discovered that this so-called junk is anything but. It has important functions, such as switching genes on and off and setting the timing for changes in gene activity. 

This lesson, using segments from the PBS series Faces of America, explores the various types of genetic information contained in the human genome. The Introductory Activity examines the structure and composition of chromosomes and DNA, and can be used as a review or introduction to the topic. Following that, students will participate in a hands-on activity reviewing basic Mendelian genetics and the difference between genotype and phenotype. Students will also learn about different ways of tracing ancestry through DNA, and apply that to patterns of human migration and genetic population sets known as haplogroups. In the Culminating Activity, students will develop methods for determining the genetic heritage of their class, school, or community.

DNA is an interactive Web site where students can learn about DNA and its structure and function, the scientific history of its discovery and its development into a powerful tool in biology, technology, and medicine, and about the Human Genome Project, genetic engineering, and some of the implications and ethical issues surrounding genetic technology.

Genomics history 12 min video

Human and Chimp genome comparisons

Researchers analysed the genomes of 51 individuals who lived between 45,000 years ago and 7,000 years ago. The results reveal details about the biology of these early inhabitants, such as skin and eye colour, and how different populations were related. It also shows that Neanderthal ancestry in Europeans has been shrinking over time, perhaps due to natural selection. The study in Nature journal shines a torchlight over some 40,000 years of prehistory, showing that ancient patterns of migration were just as complex as those in more recent times.

6:19 video

number of HGP videos

5:04 video

In the 2013 Holiday Lectures on Science, Charles L. Sawyers of Memorial Sloan-Kettering Cancer Center and Christopher A. Walsh of Boston Children's Hospital will reveal the breathtaking pace of discoveries into the genetic causes of various types of cancers and diseases of the nervous system, and discuss the impact of those discoveries on our understanding of normal human development and disease.

Pharmacogenomics can play an important role in identifying responders and non-responders to medications, avoiding adverse events, and optimizing drug dose. Drug labeling may contain information on genomic biomarkers and can describe: Drug exposure and clinical response variability Risk for adverse events Genotype-specific dosing Mechanisms of drug action Polymorphic drug target and disposition genes The table below lists FDA-approved drugs with pharmacogenomic information in their labeling. The labeling for some, but not all, of the products includes specific actions to be taken based on the biomarker information. Pharmacogenomic information can appear in different sections of the labeling depending on the actions. For more information, please refer to the appropriate labeling guidance.